Canonical Allele Identifier: CA418810686

Gene: ABCA4

Linked Data

• MyVariant Identifiers: chr1:g.94466489_94466490insGGGCAGGAGAGAGGAGGT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.94000935_94000952dup , CM000663.2:g.94000935_94000952dup	GRCh38
NC_000001.10:g.94466491_94466508dup , CM000663.1:g.94466491_94466508dup	GRCh37
NC_000001.9:g.94239079_94239096dup	NCBI36
NG_009073.1:g.125199_125216dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370225.4:c.6387-23_6387-6dup MANE Select	ENSP00000359245.3:n.6387-23_6387-6dup
ENST00000370225.3:c.6387-23_6387-6dup	ENSP00000359245.3:n.6387-23_6387-6dup
ENST00000536513.5:c.2763-23_2763-6dup	ENSP00000439707.2:n.2763-23_2763-6dup
NM_000350.2:c.6387-23_6387-6dup	NP_000341.2:n.6387-23_6387-6dup
NM_000350.3:c.6387-23_6387-6dup MANE Select	NP_000341.2:n.6387-23_6387-6dup